<abstract xmlns="http://www.w3.org/1999/xhtml"><p> A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported</p></abstract>

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported

DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE

Department of Pediatrics, the Children’s Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, Hangzhou, People’s Republic of China

Balkan Journal of Medical Genetics

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome...

DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE

Publicado en línea: 11 mar 2014

Páginas: 85 - 89

DOI: https://doi.org/10.2478/bjmg-2013-0038

Palabras clave
Double aneuploidy, Down syndrome (DS), Klinefelter syndrome (KS), 48,XXY,+21, Congenital heart defect (CHD)

This content is open access.

DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE

Publicado en línea: 11 mar 2014

Páginas: 85 - 89

DOI: https://doi.org/10.2478/bjmg-2013-0038

Palabras claveDouble aneuploidy, Down syndrome (DS), Klinefelter syndrome (KS), 48,XXY,+21, Congenital heart defect (CHD)

This content is open access.

Palabras clave
Double aneuploidy, Down syndrome (DS), Klinefelter syndrome (KS), 48,XXY,+21, Congenital heart defect (CHD)